eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| otosclerosis | ||||
| Disease ID | 284 |
|---|---|
| Disease | otosclerosis |
| Definition | Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. |
| Synonym | otoscleroses otosclerosis (disorder) otosclerosis 1 otosclerosis [disease/finding] otosclerosis nos otosclerosis nos (disorder) otosclerosis, nos otosclerosis, unspecified otospongioses otospongiosis otospongiosis, nos ots otsc1 |
| OMIM | |
| DOID | |
| UMLS | C0029899 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0042769 | virus infection | 2 C0025007 | measles | 2 C0025281 | meniere's disease | 1 C1863752 | enlarged vestibular aqueduct | 1 C0018784 | sensorineural hearing loss | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 2 | A2M | 1.889 | DISEASES 55811 | ADCY10 | 1.049 | DISEASES 183 | AGT | 1.448 | DISEASES 10139 | ARFRP1 | 3.442 | DISEASES 54829 | ASPN | 1.804 | DISEASES 650 | BMP2 | 3.619 | DISEASES 653 | BMP5 | 2.36 | DISEASES 659 | BMPR2 | 1.189 | DISEASES 796 | CALCA | 2.485 | DISEASES 799 | CALCR | 1.366 | DISEASES 959 | CD40LG | 1.091 | DISEASES 55636 | CHD7 | 1.35 | DISEASES 9244 | CRLF1 | 2.458 | DISEASES 10106 | CTDSP2 | 2.758 | DISEASES 6993 | DYNLT1 | 1.874 | DISEASES 2009 | EML1 | 2.701 | DISEASES 342184 | FMN1 | 1.861 | DISEASES 22862 | FNDC3A | 2.175 | DISEASES 2706 | GJB2 | 1.534 | DISEASES 3105 | HLA-A | 2.97 | DISEASES 3106 | HLA-B | 2.24 | DISEASES 3107 | HLA-C | 1.09 | DISEASES 9851 | KIAA0753 | 2.126 | DISEASES 100885779 | LINC-ROR | 1.512 | DISEASES 4148 | MATN3 | 1.879 | DISEASES 4700 | NDUFA6 | 1.443 | DISEASES 4771 | NF2 | 1.387 | DISEASES 9241 | NOG | 3.841 | DISEASES 148756 | OVAAL | 3.546 | DISEASES 139728 | PNCK | 1.811 | DISEASES 5456 | POU3F4 | 1.867 | DISEASES 5730 | PTGDS | 1.435 | DISEASES 5649 | RELN | 4.148 | DISEASES 83695 | RHNO1 | 1.675 | DISEASES 860 | RUNX2 | 1.348 | DISEASES 6280 | S100A9 | 1.019 | DISEASES 113675 | SDSL | 1.915 | DISEASES 6949 | TCOF1 | 1.827 | DISEASES 26136 | TES | 1.523 | DISEASES 7124 | TNF | 1.461 | DISEASES 147179 | WIPF2 | 3.104 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 284 |
|---|---|
| Disease | otosclerosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000410 | Hearing loss, mixed | 7 HP:0000405 | Conductive hearing loss | 5 HP:0002321 | Vertigo | 2 HP:0002705 | High, narrow palate | 1 HP:0000407 | sensorineural hearing loss | 1 HP:0001751 | Vestibular dysfunction | 1 HP:0000360 | Ringing in the ears | 1 HP:0000365 | Hearing impairment | 1 HP:0010885 | Aseptic necrosis | 1 HP:0011387 | Dilated vestibular aqueduct | 1 |
| Disease ID | 284 |
|---|---|
| Disease | otosclerosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:25) C2096293 | vertigo C2029884 | hearing loss C1963093 | dizziness C1550639 | fistula C1549524 | mucous membrane C1384666 | hearing impairment C1281300 | vascular degeneration C0871189 | psychotic symptoms C0700109 | rigidity C0581883 | deafness C0423479 | ear symptoms C0260662 | hearing disorders C0233777 | hallucinosis C0206586 | endolymphatic hydrops C0155552 | mixed hearing loss C0155550 | neural hearing loss C0155533 | tinnitus aurium C0155509 | perilymph fistula C0042769 | virus infection C0042594 | vestibular disorders C0020649 | hypotension C0018784 | sensorineural hearing loss C0018784 | sensorineural deafness C0018777 | conductive hearing loss C0018777 | conductive deafness |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C1384666 | hearing loss | 18 C0155552 | mixed hearing loss | 7 C0018777 | conductive hearing loss | 4 C0042571 | vertigo | 2 C0042769 | virus infection | 2 C1384666 | hearing impairment | 1 C0018777 | conductive deafness | 1 C0155550 | neural hearing loss | 1 C0012833 | dizziness | 1 C0018784 | sensorineural hearing loss | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs3914132 | 19230858 | 5649 | RELN | umls:C0029899 | GWASCAT | A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. | 0.128729747 | 2009 | RELN | 7 | 103886922 | C | T |
| rs3914132 | 20882487 | 5649 | RELN | umls:C0029899 | BeFree | Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India. | 0.128729747 | 2010 | RELN | 7 | 103886922 | C | T |
| rs3914132 | 19230858 | 5649 | RELN | umls:C0029899 | GAD | [A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.] | 0.128729747 | 2009 | RELN | 7 | 103886922 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:13) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 2 | 82078480 | rs2862590 | G | T | rs2862590 | 19230858 | 6.73E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 5 | 21586180 | rs16888770 | A | G | rs16888770 | 19230858 | 8.63E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | A | NA |
| 7 | 103489992 | rs39399 | G | A | rs39399 | 19230858 | 1.66E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | RELN |
| 7 | 103527369 | rs3914132 | C | T | rs3914132 | 19230858 | 2.00E-08 | NA | 1.54 | [1.32-1.79] | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | T | RELN |
| 11 | 11189537 | rs885117 | A | G | rs885117 | 19230858 | 3.24E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 14 | 52621833 | rs941614 | A | G | rs941614 | 19230858 | 9.71E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 15 | 82378808 | rs2654227 | C | T | rs2654227 | 19230858 | 4.44E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | C | NA |
| 16 | 80818676 | rs17761499 | T | C | rs17761499 | 19230858 | 8.89E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | T | CDYL2 |
| 18 | 41685818 | rs8099736 | G | T | rs8099736 | 19230858 | 7.50E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 19 | 37654976 | rs1533736 | A | G | rs1533736 | 19230858 | 8.35E-05 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | A | ZNF585A |
| 19 | 37720972 | rs1234261 | C | T | rs1234261 | 19230858 | 4.62E-07 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | C | ZNF383 |
| 19 | 37823811 | rs1530500 | A | G | rs1530500 | 19230858 | 1.67E-06 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | NA |
| 19 | 37875631 | rs256733 | T | C | rs256733 | 19230858 | 7.82E-06 | NA | NA | NA | 302 cases; 302 controls | NOPOP(604) | ALL(604) | NOPOP(604) | ALL(604) | Otosclerosis | HPOID:0000362 | Otosclerosis | DOID:12185 | otosclerosis | D010040 | Otosclerosis | EFOID:0004213 | otosclerosis | Nervous system disease | NA | Research Support, Non-U.S. Gov't | G | ZNF527 |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000362 | Otosclerosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 284 |
|---|---|
| Disease | otosclerosis |
| Case | (Waiting for update.) |